Responsable :  Pr Karim Wahbi

Le Pr Karim Wahbi est cardiologue à l’Institut de Myologie et dans le service de cardiologie de l’hôpital Cochin. En 2018, il a reçu 2 prix lors des 26èmes Journées européennes de la Société française de cardiologie : meilleur jeune chercheur et meilleur poster dans la thématique insuffisance cardiaque/cardiomyopathies.

L’activité de l’équipe Registres et Bases de données est dédiée au développement et au suivi de bases de données, registres, observatoires et suivis de cohortes développées au niveau de l’Ile de France et au niveau national. L’objectif de ces projets de promotion académique ou industrielle est de collecter des données épidémiologiques, d’histoire naturelle, d’évaluer l’effet de traitements et de préparer des essais thérapeutiques futurs.

Projets en cours

• Observatoire national sur les maladies de l’enveloppe nucléaire dont les laminopathies en collaboration avec de l’équipe de recherche Inserm de Gisèle Bonne, PhD
• Observatoire maladies mitochondriales dont le Pr Laforêt est investigateur principal
• Registre glycogénoses de type 3 dont le Pr Laforêt et le Pr Labrune sont co-investigateurs principaux
• Étude de suivi de cohorte dystrophie musculaire de Becker
• Registre maladie de Pompe dont le Pr Laforêt est investigateur principal (promoteur : laboratoire Genzyme)

Composition de l’équipe

Karim Wahbi, cardiologue
Rabah Ben Yaou, neurologue
Khadija Chikhaoui, ARC
Nawal Berber, ARC
Nadgib Taouagh, ARC
Néjette Lallouche, ARC

Nos principales publications

• Russo V, Wahbi K. Appropriate timing of electrophysiological study in myotonic dystrophy type 1: unsolved question. Europace. 2021 Dec 21:euab311. doi: 10.1093/europace/euab311. Online ahead of print. PMID: 34931223
• Gossios TD, Providencia R, Creta A, Segal OR, Nikolenko N, Turner C, Lopes LR, Wahbi K, Savvatis K. An overview of heart rhythm disorders and management in myotonic dystrophy type 1. Heart Rhythm. 2021 Nov 26:S1547-5271(21)02418-8. doi: 10.1016/j.hrthm.2021.11.028. Online ahead of print. PMID: 34843968 Review.
• Lioncino M, Monda E, Caiazza M, Fusco A, Cirillo A, Dongiglio F, Simonelli V, Sampaolo S, Ruggiero L, Scarano G, Pota V, Frisso G, Mazzaccara C, D’Amati G, Nigro G, Russo MG, Wahbi K, Limongelli G. Cardiovascular Involvement in mtDNA Disease: Diagnosis, Management, and Therapeutic Options. Heart Fail Clin. 2022 Jan;18(1):51-60. doi: 10.1016/j.hfc.2021.07.003. Epub 2021 Oct 26. PMID: 34776083 Review.
• Pisella LI, Fernandes S, Solé G, Stojkovic T, Tard C, Chanson JB, Bouhour F, Salort-Campana E, Beaudonnet G, Debergé L, Duval F, Grapperon AM, Masingue M, Nadaj-Pakleza A, Péréon Y, Audic F, Behin A, Friedman D, Magot A, Noury JB, Souvannanorath S, Wahbi K, Antoine JC, Bigaut K, Camdessanché JP, Cintas P, Debs R, Espil-Taris C, Kremer L, Kuntzer T, Laforêt P, Laugel V, Mallaret M, Michaud M, Nollet S, Svahn J, Vicart S, Villar-Quiles RN, Desguerre I, Adams D, Segovia-Kueny S, Merret G, Hammouda E, Molon A, Attarian S. A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases. Orphanet J Rare Dis. 2021 Oct 26;16(1):450. doi: 10.1186/s13023-021-02090-y. PMID: 34702344 Free PMC article.
• Fayssoil A, Nguyen LS, Stojkovic T, Prigent H, Carlier R, Amthor H, Bergounioux J, Zini J, Damez-Fontaine S, Wahbi K, Laforet P, Nicolas G, Behin A, Bassez G, Leturcq F, Ben Yaou R, Mansencal N, Annane D, Lofaso F, Orlikowski D. Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy. Muscle Nerve. 2022 Jan;65(1):89-95. doi: 10.1002/mus.27432. Epub 2021 Oct 25. PMID: 34618930
• Fayssoil A, Lazarus A, Wahbi K, Clair B, Mansencal N, Orlikowski D. Leadless intracardiac transcatheter pacing system: 20 months follow up in adult Duchenne muscular dystrophy. Neuromuscul Disord. 2021 Sep;31(9):896-898. doi: 10.1016/j.nmd.2021.06.008. Epub 2021 Jun 19. PMID: 34391632
• Restrepo-Cordoba MA, Wahbi K, Florian AR, Jiménez-Jáimez J, Politano L, Arad M, Climent-Paya V, Garcia-Alvarez A, Hansen RB, Larrañaga-Moreira JM, Kubanek M, Lopes LR, Ros A, Jurcut R, Rasmussen TB, Ruiz-Guerrero L, Pribe-Wolferts R, Palomino-Doza J, Bilinska Z, Rodríguez-Palomares JF, Van Loon RLE, Basurte Elorz MT, Quarta G, Robledo Iñarritu M, Verdonschot JAJ, Stojkovic T, Shomanova Z, Bermudez-Jimenez F, Palladino A, Freimark D, García-Álvarez MI, Jorda P, Dominguez F, Ochoa JP, Girolami F, Brugada R, Meder B, Barriales-Villa R, Mogensen J, Laforêt P, Yilmaz A, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1). Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy. Eur J Heart Fail. 2021 Aug;23(8):1276-1286. doi: 10.1002/ejhf.2250. Epub 2021 Jun 9. PMID: 34050592
• Stalens C, Motté L, Béhin A, Ben Yaou R, Leturcq F, Bassez G, Laforêt P, Fontaine B, Ederhy S, Masingue M, Saadi M, Louis SL, Berber N, Stojkovic T, Duboc D, Wahbi K. Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy. J Neuromuscul Dis. 2021;8(4):495-502. doi: 10.3233/JND-200620. PMID: 33814458 Free PMC article.
• Porcher R, Desguerre I, Amthor H, Chabrol B, Audic F, Rivier F, Isapof A, Tiffreau V, Campana-Salort E, Leturcq F, Tuffery-Giraud S, Ben Yaou R, Annane D, Amédro P, Barnerias C, Bécane HM, Béhin A, Bonnet D, Bassez G, Cossée M, de La Villéon G, Delcourte C, Fayssoil A, Fontaine B, Godart F, Guillaumont S, Jaillette E, Laforêt P, Leonard-Louis S, Lofaso F, Mayer M, Morales RJ, Meune C, Orlikowski D, Ovaert C, Prigent H, Saadi M, Sochala M, Tard C, Vaksmann G, Walther-Louvier U, Eymard B, Stojkovic T, Ravaud P, Duboc D, Wahbi K. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data. Eur Heart J. 2021 May 21;42(20):1976-1984. doi: 10.1093/eurheartj/ehab054. PMID: 33748842.
• Atalaia A, Ben Yaou R, Wahbi K, De Sandre-Giovannoli A, Vigouroux C, Bonne G. Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’. J Neuromuscul Dis. 2021;8(3):419-439. doi: 10.3233/JND-200596. PMID: 33682723 Free PMC article.
• Berling É, Laforêt P, Wahbi K, Labrune P, Petit F, Ronzitti G, O’Brien A. Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects. J Inherit Metab Dis. 2021 May;44(3):521-533. doi: 10.1002/jimd.12355. Epub 2021 Jan 3. PMID: 33368379 Review.
• de Feraudy Y, Ben Yaou R, Wahbi K, Stalens C, Stantzou A, Laugel V, Desguerre I; FILNEMUS Network, Servais L, Leturcq F, Amthor H. Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy. Ann Neurol. 2021 Feb;89(2):280-292. doi: 10.1002/ana.25951. Epub 2020 Nov 24. PMID: 33159473 Free PMC article.
• Guimarães-Costa R, Fernández-Eulate G, Wahbi K, Leturcq F, Malfatti E, Behin A, Leonard-Louis S, Desguerre I, Barnerias C, Nougues MC, Isapof A, Estournet-Mathiaud B, Quijano-Roy S, Fayssoil A, Orlikowski D, Fauroux B, Richard I, Semplicini C, Romero NB, Querin G, Eymard B, Laforêt P, Stojkovic T. Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies. Eur J Neurol. 2021 Feb;28(2):660-669. doi: 10.1111/ene.14592. Epub 2020 Nov 21. PMID: 33051934.
• Tosserams A, Papadopoulos C, Jardel C, Lemière I, Romero NB, De Lonlay P, Wahbi K, Voermans N, Hogrel JY, Laforêt P. Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations. Mitochondrion. 2017 Aug 18. pii:S1567-7249(16)30193-3. doi: 10.1016/j.mito.2017.08.009. [Epub ahead of print]PubMed PMID: 28823815.
• Heller F, Dabaj I, Mah JK, Bergounioux J, Essid A, Bönnemann CG, Rutkowski A, Bonne G, Quijano-Roy S, Wahbi K. Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care. Cardiol Young. 2017 Aug;27(6):1076-1082. doi:10.1017/S1047951116002079. Epub 2016 Dec 12. PubMed PMID: 27938454.
• Fayssoil A, Laforêt P, Bougouin W, Jardel C, Lombès A, Bécane HM, Berber N,Stojkovic T, Béhin A, Eymard B, Duboc D, Wahbi K. Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome. Eur J Neurol. 2017 Feb;24(2):255-261. doi: 10.1111/ene.13176. Epub 2016 Nov 21. PubMed PMID: 27869334.
• Le Guiner C, Servais L, Montus M, Larcher T, Fraysse B, Moullec S, Allais M, François V, Dutilleul M, Malerba A, Koo T, Thibaut JL, Matot B, Devaux M, Le Duff J, Deschamps JY, Barthelemy I, Blot S, Testault I, Wahbi K, Ederhy S, Martin S, Veron P, Georger C, Athanasopoulos T, Masurier C, Mingozzi F, Carlier P, Gjata B, Hogrel JY, Adjali O, Mavilio F, Voit T, Moullier P, Dickson G. Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy. Nat Commun. 2017 Jul 25;8:16105. doi: 10.1038/ncomms16105.
• Preisler N, Laforêt P, Madsen KL, Husu E, Vissing CR, Hedermann G, Galbo H, Lindberg C, Vissing J. Skeletal muscle metabolism during prolonged exercise in Pompe disease. Endocr Connect. 2017 Aug;6(6):384-394. doi: 10.1530/EC-17-0042. Epub 2017 May 10. PubMed PMID: 28490439.
• Papadopoulos C, Orlikowski D, Prigent H, Lacour A, Tard C, Furby A, Praline J, Solé G, Hogrel JY, De Antonio M, Semplicini C, Deibener-Kaminsky J, Kaminsky P, Eymard B, Taouagh N, Perniconi B, Hamroun D, Laforêt P; French Pompe Study Group. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. Mol Genet Metab. 2017 Jun 20. pii: S1096-7192(17)30336-0. doi: 10.1016/j.ymgme.2017.06.007. [Epub ahead of print] PubMed PMID: 28648663.
• Byrne BJ, Geberhiwot T, Barshop BA, Barohn R, Hughes D, Bratkovic D, Desnuelle C, Laforet P, Mengel E, Roberts M, Haroldsen P, Reilley K, Jayaram K, Yang K, Walsh L; POM-001/002 Investigators. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease. Orphanet J Rare Dis. 2017 Aug 24;12(1):144. doi: 10.1186/s13023-017-0693-2. PubMed PMID: 28838325; PubMed Central PMCID: PMC5571484.
• van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J, Schoser B; European Pompe Consortium. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol. 2017 Jun;24(6):768-e31. doi:10.1111/ene.13285. Epub 2017 May 6. PubMed PMID: 28477382.